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https://www.readbyqxmd.com/read/28329682/the-swi-snf-protein-pbrm1-restrains-vhl-loss-driven-clear-cell-renal-cell-carcinoma
#1
Amrita M Nargund, Can G Pham, Yiyu Dong, Patricia I Wang, Hatice U Osmangeyoglu, Yuchen Xie, Omer Aras, Song Han, Toshinao Oyama, Shugaku Takeda, Chelsea E Ray, Zhenghong Dong, Mathieu Berge, A Ari Hakimi, Sebastien Monette, Carl L Lekaye, Jason A Koutcher, Christina S Leslie, Chad J Creighton, Nils Weinhold, William Lee, Satish K Tickoo, Zhong Wang, Emily H Cheng, James J Hsieh
PBRM1 is the second most commonly mutated gene after VHL in clear cell renal cell carcinoma (ccRCC). However, the biological consequences of PBRM1 mutations for kidney tumorigenesis are unknown. Here, we find that kidney-specific deletion of Vhl and Pbrm1, but not either gene alone, results in bilateral, multifocal, transplantable clear cell kidney cancers. PBRM1 loss amplified the transcriptional outputs of HIF1 and STAT3 incurred by Vhl deficiency. Analysis of mouse and human ccRCC revealed convergence on mTOR activation, representing the third driver event after genetic inactivation of VHL and PBRM1...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28315321/the-functional-interplay-between-the-hif-pathway-and-the-ubiquitin-system-more-than-a-one-way-road
#2
Julia Günter, Amalia Ruiz-Serrano, Christina Pickel, Roland H Wenger, Carsten C Scholz
The hypoxia inducible factor (HIF) pathway and the ubiquitin system represent major cellular processes that are involved in the regulation of a plethora of cellular signaling pathways and tissue functions. The ubiquitin system controls the ubiquitination of proteins, which is the covalent linkage of one or several ubiquitin molecules to specific targets. This ubiquitination is catalysed by approximately 1000 different E3 ubiquitin ligases and can lead to different effects, depending on the type of internal ubiquitin chain linkage...
March 14, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28315281/are-there-changes-in-the-fatty-acid-profile-of-breast-milk-with-supplementation-of-omega-3-sources-a-systematic-review
#3
Yasmin Notarbartolo di Villarosa do Amaral, Daniele Marano, Leila Maria Lopes da Silva, Aline Carnevale Lia Dias Guimarães, Maria Elisabeth Lopes Moreira
Purpose To evaluate the effect of supplementation with omega-3 sources on the fatty acid composition of human milk. Methods The review consisted of the search for articles published in PubMed, Biblioteca Virtual de Saúde (Virtual Health Library[VHL]) and Web of Science databases using the following keywords: fatty acids, omega-3, human milk and supplementation; for this purpose, we have used the program of research to integrate the services for the maintenance of autonomy (PRISMA) checklist. The following selection criteria were used: articles in English, Portuguese, Spanish or Italian, published between 2000 and 2015, and about studies performed in humans...
March 17, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28291569/influence-of-third-molars-in-mandibular-fractures-part-1-mandibular-angle-a-meta-analysis
#4
REVIEW
A C V Armond, C C Martins, J C R Glória, E L Galvão, C R R Dos Santos, S G M Falci
The aim of this systematic review was to investigate the influence of the presence and position of mandibular third molars on angle fractures. An electronic search was conducted in the PubMed, Scopus, Web of Science, Cochrane Library, and VHL databases, through January 2016. The eligibility criteria included observational studies. The search strategy resulted in 704 articles. Following the selection process, 35 studies were included in the systematic review and 28 in the meta-analysis. Twenty studies presented a score of ≤6 stars in the Newcastle-Ottawa scale assessment, indicating a risk of bias in the analysis...
March 10, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28288108/structural-basis-of-protac-cooperative-recognition-for-selective-protein-degradation
#5
Morgan S Gadd, Andrea Testa, Xavier Lucas, Kwok-Ho Chan, Wenzhang Chen, Douglas J Lamont, Michael Zengerle, Alessio Ciulli
Inducing macromolecular interactions with small molecules to activate cellular signaling is a challenging goal. PROTACs (proteolysis-targeting chimeras) are bifunctional molecules that recruit a target protein in proximity to an E3 ubiquitin ligase to trigger protein degradation. Structural elucidation of the key ternary ligase-PROTAC-target species and its impact on target degradation selectivity remain elusive. We solved the crystal structure of Brd4 degrader MZ1 in complex with human VHL and the Brd4 bromodomain (Brd4(BD2))...
March 13, 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28277581/dietary-flavonoids-luteolin-and-quercetin-inhibit-invasion-of-cervical-cancer-by-reduction-of-ube2s-through-epithelial-mesenchymal-transition-signaling
#6
Tsung-Han Lin, Wen-Hsien Hsu, Pei-Hsun Tsai, Ying-Tang Huang, Cheng-Wei Lin, Ku-Chung Chen, Inn-Ho Tsai, Chithan C Kandaswami, Chang-Jen Huang, Geen-Dong Chang, Ming-Ting Lee, Chia-Hsiung Cheng
We previously reported that the dietary flavonoids, luteolin and quercetin, might inhibit the invasiveness of cervical cancer by reversing epithelial-mesenchymal transition (EMT) signaling. However, the regulatory mechanism exerted by luteolin and quercetin is still unclear. This study analyzed the invasiveness activation by ubiquitin E2S ligase (UBE2S) through EMT signaling and inhibition by luteolin and quercetin. We found that UBE2S expression was significantly higher in highly invasive A431 subgroup III (A431-III) than A431-parental (A431-P) cells...
March 9, 2017: Food & Function
https://www.readbyqxmd.com/read/28276433/renal-cell-carcinoma
#7
REVIEW
James J Hsieh, Mark P Purdue, Sabina Signoretti, Charles Swanton, Laurence Albiges, Manuela Schmidinger, Daniel Y Heng, James Larkin, Vincenzo Ficarra
Renal cell carcinoma (RCC) denotes cancer originated from the renal epithelium and accounts for >90% of cancers in the kidney. The disease encompasses >10 histological and molecular subtypes, of which clear cell RCC (ccRCC) is most common and accounts for most cancer-related deaths. Although somatic VHL mutations have been described for some time, more-recent cancer genomic studies have identified mutations in epigenetic regulatory genes and demonstrated marked intra-tumour heterogeneity, which could have prognostic, predictive and therapeutic relevance...
March 9, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28261513/primary-clear-cell-microcystic-adenoma-of-the-sinonasal-cavity-pathological-or-fortuitous-association
#8
Rosalin Cooper, Hannah Markham, Jeffery Theaker, Adrian Bateman, David Bunyan, Matthew Sommerlad, Gillian Crawford, Diana Eccles
Primary clear cell microcystic adenoma of the sinonasal cavity is rare. It has previously been described only as a VHL-associated tumour. Von Hippel-Lindau (VHL) syndrome is an inherited cancer syndrome characterised by an elevated risk of neoplasia including clear cell renal cell carcinoma (ccRCC), haemangioblastoma, and phaeochromocytoma. We describe the second reported case of a primary clear cell microcystic adenoma of the sinonasal cavity. The 39-year-old patient with VHL syndrome had previously undergone resection and ablation of ccRCC...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28259600/influence-of-third-molars-in-mandibular-fractures-part-2-mandibular-condyle-a-meta-analysis
#9
REVIEW
A C V Armond, C C Martins, J C R Glória, E L Galvão, C R R Dos Santos, S G M Falci
The aim of this systematic review was to investigate the influence of the presence and position of mandibular third molars in mandibular condyle fractures. An electronic search was conducted in PubMed, Scopus, Web of Science, Cochrane Library, and VHL, through January 2016. The eligibility criteria included observational studies. The search strategy resulted in 704 articles. Following the selection process, 13 studies were included in the systematic review and 11 in the meta-analysis. In terms of the risk of bias analysis, six studies presented ≤6 stars in the Newcastle-Ottawa scale assessment...
March 1, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28259286/targeting-hif-2-%C3%AE-in-clear-cell-renal-cell-carcinoma-a-promising-therapeutic-strategy
#10
REVIEW
Olga Martínez-Sáez, Pablo Gajate Borau, Teresa Alonso-Gordoa, Javier Molina-Cerrillo, Enrique Grande
The loss of the Von Hippel-Lindau tumor suppressor (VHL) is a key oncogenic event in the vast majority of patients with clear cell renal cell carcinoma (ccRCC). With the loss of the VHL protein (pVHL) function, the hypoxia inducible factor α (HIF-α) accumulates inside the tumor cell and dimerizes with HIF-β. The HIF-α/HIF-β complex transcriptionally activates hundreds of genes promoting the adaptation to hypoxia that is implicated in tumor development. There is growing evidence showing that HIF-2α subunit has a central role in ccRCC over HIF-1α...
March 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28257806/pseudohypoxia-induced-by-mir-126-deactivation-promotes-migration-and-therapeutic-resistance-in-renal-cell-carcinoma
#11
Weijun Liu, Hanxiang Chen, Nathan Wong, Wesley Haynes, Callie M Baker, Xiaowei Wang
Pseudohypoxia plays a central role in the progression and therapeutic resistance of clear cell renal cell carcinoma (ccRCC); however, the underlying mechanisms are poorly understood. MicroRNA miR-126 has decreased expression in metastatic or relapsed ccRCC as compared to primary tumors, but the mechanisms by which miR-126 is implicated in RCC remain unknown. Through RNA-seq profiling to evaluate the impact of overexpression or CRISPR knockout of miR-126, we have identified SERPINE1 as a miR-126-5p target regulating cell motility, and SLC7A5 as a miR-126-3p target regulating the mTOR/HIF pathway...
February 28, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28256713/intrinsic-gene-changes-determine-the-successful-establishment-of-stable-renal-cancer-cell-lines-from-tumour-tissue
#12
Hailiang Feng, Yu Zhang, Kan Liu, Yan Zhu, Zhenli Yang, Xu Zhang, Yuqin Liu
Human tumour cell lines, especially those with complete data and follow-up, are important tools in tumour biological studies. Clear cell renal cell cancer (ccRCC) is not sensitive to radiotherapy or chemotherapy, and treatment of patients with distant metastasis relies on targeted therapy. Here, we report the establishment of 7 new ccRCC stable cell lines that were continuously cultured for more than 20 generations after selection from samples of 81 cases of renal cell cancer. Moreover, gene expression and methylation in the established cell lines, in those that had a finite in vitro life span of less than 10 generations, and in cells that originated from the same culture at different generations were profiled using microarrays...
March 3, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28256701/treatment-of-multiple-synchronous-misdiagnosed-renal-cell-cancers-in-a-young-patient-affected-by-a-de-novo-von-hippel-lindau-syndrome
#13
Marco Allasia, Antonino Battaglia, Barbara Pasini, Carlo Gazzera, Marco Calandri, Andrea Bosio, Paolo Gontero, Paolo Destefanis
INTRODUCTION: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited syndrome occurring in one out of 36,000 live births. Diagnosis could be a challenge in patients with no familial VHL history. Renal cancer (RCC) represents one of the most important manifestations. RCC is usually recurrent and multifocal. Actually treating RCC in VHL patients represent a clinical dilemma: the oncological outcomes must be balanced against renal function preservation. CASE PRESENTATION: A young man with a negative familial history was referred to our department with seven misdiagnosed renal masses...
February 28, 2017: Urologia
https://www.readbyqxmd.com/read/28255411/structured-assessment-and-followup-for-patients-with-hereditary-kidney-tumour-syndromes
#14
Jean-Baptiste Lattouf, Stephen E Pautler, M Neil Reaume, Raymond H Kim, Melanie Care, Jane Green, Alan So, Philippe D Violette, Issam Saliba, Philippe Major, Shane Silver, Richard Leicht, Joan Basiuk, Simon Tanguay, Michael A S Jewett, Darrel Drachenberg
INTRODUCTION: Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated. METHODS: A review of the literature, including existing guidelines, was carried out for the years 1985-2015. Expert consensus was used to define recommendations for initial assessment and followup...
July 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28247252/cabozantinib-an-active-novel-multikinase-inhibitor-in-renal-cell-carcinoma
#15
REVIEW
Nizar M Tannir, Gisela Schwab, Viktor Grünwald
Clear cell renal cell carcinoma (RCC) is characterized by inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene. VHL loss drives tumor angiogenesis and accounts for the clinical activity of VEGF receptor (VEGFR) tyrosine kinase inhibitors (TKIs), the first-line standard of care for advanced RCC. Within the last year, three new second-line treatments have received FDA approval for use after anti-angiogenic therapy: the immune checkpoint inhibitor nivolumab, the TKI cabozantinib, and the combination of the TKI lenvatinib and the mTOR inhibitor everolimus...
February 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28235946/vhl-promotes-immune-response-against-renal-cell-carcinoma-via-nf-%C3%AE%C2%BAb-dependent-regulation-of-vcam-1
#16
David Labrousse-Arias, Emma Martínez-Alonso, María Corral-Escariz, Raquel Bienes-Martínez, Jaime Berridy, Leticia Serrano-Oviedo, Elisa Conde, María-Laura García-Bermejo, José M Giménez-Bachs, Antonio S Salinas-Sánchez, Ricardo Sánchez-Prieto, Masahiro Yao, Marina Lasa, María J Calzada
Vascular cell adhesion molecule 1 (VCAM-1) is an adhesion molecule assigned to the activated endothelium mediating immune cells adhesion and extravasation. However, its expression in renal carcinomas inversely correlates with tumor malignancy. Our experiments in clear cell renal cell carcinoma (ccRCC) cell lines demonstrated that von Hippel Lindau (VHL) loss, hypoxia, or PHD (for prolyl hydroxylase domain-containing proteins) inactivation decreased VCAM-1 levels through a transcriptional mechanism that was independent of the hypoxia-inducible factor and dependent on the nuclear factor κB signaling pathway...
March 6, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28231563/hypoxia-pathway-mutations-in-pheochromocytomas-and-paragangliomas
#17
Diana Amorim-Pires, Joana Peixoto, Jorge Lima
Pheochromocytomas (PCC) and sympathetic paragangliomas (PGL) are rare neuroendocrine tumors, which derive from chromaffin cells occurring in the adrenal medulla and extra-adrenal sympathetic paraganglia. PCC and PGL are often benign, catecholamine-producing tumors, responsible for a myriad of symptoms that may be potentially hazardous to the patient. In contrast, nonsecreting parasympathetic PGL, derived from chief cells, develop mainly in the head and neck region. Although PCC/PGL are more commonly sporadic tumors, germline mutations are present in up to 40% of the patients, ranking these tumors among those with the highest degree of heritability...
February 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28219937/a-meta-analysis-of-prognostic-roles-of-molecular-markers-in-papillary-thyroid-carcinoma
#18
Huy Gia Vuong, Uyen N P Duong, Ahmed M A Altibi, Hanh T T Ngo, Thong Quang Pham, Hung Minh Tran, Greta Gandolfi, Lewis Hassell
The prognostic role of molecular markers in papillary thyroid carcinoma (PTC) is a matter of ongoing debate. The aim of our study is to investigate the impact of RAS, BRAF, TERT promoter mutations and RET/PTC rearrangements on prognosis of PTC patients. We performed a search in four electronic databases: PubMed, Scopus, Web of Science and Virtual Health Library (VHL). Data of hazard ratio (HR) and its 95% confidence interval (CI) for Disease-specific survival (DSS) and Disease-free survival (DFS) were directly obtained from original papers or indirectly estimated from Kaplan Meier curve (KMC)...
February 20, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28214514/detecting-circulating-tumor-dna-in-renal-cancer-an-open-challenge
#19
Claudia Corrò, Tomas Hejhal, Cédric Poyet, Tullio Sulser, Thomas Hermanns, Thomas Winder, Gerald Prager, Peter J Wild, Ian Frew, Holger Moch, Markus Rechsteiner
BACKGROUND: Detection of circulating tumor DNA (ctDNA) in blood of cancer patients is regarded as an important step towards personalized medicine and treatment monitoring. In the present study, we investigated the clinical applicability of ctDNA as liquid biopsy in renal cancer. METHODS: ctDNA in serum and plasma samples derived from ccRCC and colon cancer patients as well as ctDNA isolated from RCC xenografts with known VHL mutation status was investigated using next generation sequencing (NGS)...
February 22, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28199314/whole-genome-landscape-of-pancreatic-neuroendocrine-tumours
#20
Aldo Scarpa, David K Chang, Katia Nones, Vincenzo Corbo, Ann-Marie Patch, Peter Bailey, Rita T Lawlor, Amber L Johns, David K Miller, Andrea Mafficini, Borislav Rusev, Maria Scardoni, Davide Antonello, Stefano Barbi, Katarzyna O Sikora, Sara Cingarlini, Caterina Vicentini, Skye McKay, Michael C J Quinn, Timothy J C Bruxner, Angelika N Christ, Ivon Harliwong, Senel Idrisoglu, Suzanne McLean, Craig Nourse, Ehsan Nourbakhsh, Peter J Wilson, Matthew J Anderson, J Lynn Fink, Felicity Newell, Nick Waddell, Oliver Holmes, Stephen H Kazakoff, Conrad Leonard, Scott Wood, Qinying Xu, Shivashankar Hiriyur Nagaraj, Eliana Amato, Irene Dalai, Samantha Bersani, Ivana Cataldo, Angelo P Dei Tos, Paola Capelli, Maria Vittoria Davì, Luca Landoni, Anna Malpaga, Marco Miotto, Vicki L J Whitehall, Barbara A Leggett, Janelle L Harris, Jonathan Harris, Marc D Jones, Jeremy Humphris, Lorraine A Chantrill, Venessa Chin, Adnan M Nagrial, Marina Pajic, Christopher J Scarlett, Andreia Pinho, Ilse Rooman, Christopher Toon, Jianmin Wu, Mark Pinese, Mark Cowley, Andrew Barbour, Amanda Mawson, Emily S Humphrey, Emily K Colvin, Angela Chou, Jessica A Lovell, Nigel B Jamieson, Fraser Duthie, Marie-Claude Gingras, William E Fisher, Rebecca A Dagg, Loretta M S Lau, Michael Lee, Hilda A Pickett, Roger R Reddel, Jaswinder S Samra, James G Kench, Neil D Merrett, Krishna Epari, Nam Q Nguyen, Nikolajs Zeps, Massimo Falconi, Michele Simbolo, Giovanni Butturini, George Van Buren, Stefano Partelli, Matteo Fassan, Kum Kum Khanna, Anthony J Gill, David A Wheeler, Richard A Gibbs, Elizabeth A Musgrove, Claudio Bassi, Giampaolo Tortora, Paolo Pederzoli, John V Pearson, Nicola Waddell, Andrew V Biankin, Sean M Grimmond
The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2...
February 15, 2017: Nature
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